Ectodermal dysplasia

Gene: KRT74

Green List (high evidence)

KRT74 (keratin 74)
EnsemblGeneIds (GRCh38): ENSG00000170484
EnsemblGeneIds (GRCh37): ENSG00000170484
OMIM: 608248, Gene2Phenotype
KRT74 is in 5 panels

4 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: This gene is Green on the Non-syndromic hypotrichosis panel (version 1.1, code 189) with a monoallelic mode of inheritance for Hypotrichosis. It has a Red rating with a biallelic mode of inheritance on the Ectodermal dysplasia without a known gene mutation panel (version 1.15, code 136), for Ectodermal dysplasia 7 due to one family report. Therefore for the Green status, a monoallelic mode of inheritance is given here.
Created: 3 Jan 2019, 10:33 a.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green: Although only 1 case of Hypotrichosis, there are additional Woolly hair cases that could be considered hypotrichosis (see Reviewer's comments).
Created: 20 Feb 2017, 2 p.m.
Comment on list classification: Updated rating from Red to Amber: 1 case of hypotrichosis (PMID:21188418), 1 case of ecotodermal dysplasia hair/nail (PMID:24714551, Alice previously commented that if ectodermal dysplasia is mild, the hypotrichosis could be the main presenting phenotype), and 2 Pakistani cases of Woolly hair.
Created: 16 Feb 2017, 9:46 a.m.
Comment on KRT74 from Celia Moss to support her Green rating of the gene: There are Pakistani families with woolly hair and this term is sometimes used synonymously with hypotrichosis (woolly hair is usually fine, short and sparse although hypotrichosis is not necessarily wooly). So I considered those families to have hypotrichosis.
Created: 16 Feb 2017, 9:42 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by PMID:21188418.
Created: 24 Jan 2017, 3:07 p.m.
In affected members of a consanguineous Pakistani family segregating autosomal dominant hypotrichosis simplex of the scalp (HYPT3; OMIM:613981), Wasif et al. (2011, PMID:21188418) identified a heterozygous 1444G-A transition in KRT74 (D482N). The mutation was not detected in 300 unrelated control individuals.
Created: 24 Jan 2017, 3:02 p.m.

Celia Moss (Birmingham Children's Hospital)

Green List (high evidence)

May be associated with nail abnormalities so not strictly non-syndromic
Created: 20 Jan 2017, 5:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Hypotrichosis 3; Woolly hair, autosomal dominant

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Only one variant reported in Ectodermal dysplasia 7, hair/nail type 614929
Created: 10 Aug 2016, 9:22 a.m.
Comment on phenotypes: Also associated with Hypotrichosis 3 613981 and Woolly hair, autosomal dominant 194300
Created: 10 Aug 2016, 9:21 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929
  • hypotrichosis simplex of the scalp
  • Hypotrichosis 3, 613981
  • HYPT3
OMIM
608248
Clinvar variants
Variants in KRT74
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: KRT74 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: KRT74 was added gene: KRT74 was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: KRT74 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: KRT74 were set to 21188418; 24714551 Phenotypes for gene: KRT74 were set to Pure hair and nail ectodermal dysplasia (PHNED) Ectodermal dysplasia 7, hair/nail type 614929; hypotrichosis simplex of the scalp; Hypotrichosis 3, 613981; HYPT3